Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

@article{Wibrand2001MultisystemDA,
  title={Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene},
  author={Flemming Wibrand and Kirstine Ravn and Marianne Schwartz and T. Rosenberg and Nina Horn and John Vissing},
  journal={Annals of Neurology},
  year={2001},
  volume={50}
}
Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in… 
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